Canonical Allele Identifier: CA278636224

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433412
• ClinVar RCV Id: RCV000499169
• dbSNP Id: rs74315152
• MyVariant Identifiers: chr16:g.16263648_16263663del (hg19) ; chr16:g.16169791_16169806del (hg38)
• PubMed: PMID:15723264

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169791_16169806del , CM000678.2:g.16169791_16169806del	GRCh38
NC_000016.9:g.16263648_16263663del , CM000678.1:g.16263648_16263663del	GRCh37
NC_000016.8:g.16171149_16171164del	NCBI36
NG_007558.2:g.58667_58682del
NG_007558.3:g.58813_58828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2836_2851del	ENSP00000483331.2:p.Leu946SerfsTer18
ENST00000205557.12:c.2836_2851del MANE Select	ENSP00000205557.7:p.Leu946SerfsTer18
ENST00000205557.11:c.2836_2851del	ENSP00000205557.7:p.Leu946SerfsTer18
ENST00000456970.6:c.2661_2676del	ENSP00000405002.2:n.2661_2676del
ENST00000622290.4:c.*45_*60del	ENSP00000483331.1:n.*45_*60del
NM_001171.5:c.2836_2851del	NP_001162.4:p.Leu946SerfsTer18
XM_011522479.1:c.2803_2818del	XP_011520781.1:p.Leu935SerfsTer18
XM_011522480.1:c.2494_2509del	XP_011520782.1:p.Leu832SerfsTer18
XM_011522481.1:c.2494_2509del	XP_011520783.1:p.Leu832SerfsTer18
XR_932836.1:n.3071_3086del
XR_932837.1:n.3072_3087del
XR_932838.1:n.3072_3087del
NM_001351800.1:c.2494_2509del	NP_001338729.1:p.Leu832SerfsTer18
NR_147784.1:n.2698_2713del
XM_011522479.2:c.2803_2818del	XP_011520781.1:p.Leu935SerfsTer18
XM_011522481.3:c.2494_2509del	XP_011520783.1:p.Leu832SerfsTer18
XM_017023212.1:c.2668_2683del	XP_016878701.1:p.Leu890SerfsTer18
XM_017023214.1:c.2836_2851del	XP_016878703.1:p.Leu946SerfsTer18
XM_024450261.1:c.2872_2887del	XP_024306029.1:p.Leu958SerfsTer18
XR_932836.2:n.3017_3032del
XR_932837.3:n.3017_3032del
XR_932838.3:n.3017_3032del
NM_001171.6:c.2836_2851del MANE Select	NP_001162.5:p.Leu946SerfsTer18